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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Nkx2-5em1Dsr
endonuclease-mediated mutation 1, Deepak Srivastava
MGI:6360206
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Nkx2-5em1Dsr/Nkx2-5em1Dsr involves: C57BL/6J MGI:6360220
cx2
 		Mrtfbem1Dsr/Mrtfb+
Myh7em1Dsr/Myh7+
Nkx2-5em1Dsr/Nkx2-5+ 		involves: C57BL/6J MGI:6360225


Genotype
MGI:6360220
hm1
Allelic
Composition		 Nkx2-5em1Dsr/Nkx2-5em1Dsr
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5em1Dsr mutation (0 available); any Nkx2-5 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
thin myocardium ( J:277399 )
• thin apical myocardial wall in embryos
abnormal heart ventricle morphology ( J:277399 )
• subtle abnormalities in the ventricular wall before the first week of life
abnormal trabecula carnea morphology ( J:277399 )
• mild hypertrabeculation and apical recesses in P3 ventricular wall

muscle
abnormal trabecula carnea morphology ( J:277399 )
• mild hypertrabeculation and apical recesses in P3 ventricular wall
thin myocardium ( J:277399 )
• thin apical myocardial wall in embryos




Genotype
MGI:6360225
cx2
Allelic
Composition		 Mrtfbem1Dsr/Mrtfb+
Myh7em1Dsr/Myh7+
Nkx2-5em1Dsr/Nkx2-5+
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mrtfbem1Dsr mutation (0 available); any Mrtfb mutation (68 available)
Myh7em1Dsr mutation (0 available); any Myh7 mutation (96 available)
Nkx2-5em1Dsr mutation (0 available); any Nkx2-5 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal trabecula carnea morphology ( J:277399 )
• mice exhibit deep trabeculations in the left ventricular wall at P3
• mice show a significant difference in trabecular complexity compared to controls
thin ventricular wall ( J:277399 )
• decrease in the apical wall thickness
• however, no changes in left ventricular free wall thickness
increased response of heart to induced stress ( J:277399 )
• mice exhibit a reduction in cardiac function after transverse aortic constriction compared to wild-type mice, with incomplete penetrance
• however, cardiac function by echocardiography is normal at baseline in adult mice

homeostasis/metabolism
increased response of heart to induced stress ( J:277399 )
• mice exhibit a reduction in cardiac function after transverse aortic constriction compared to wild-type mice, with incomplete penetrance
• however, cardiac function by echocardiography is normal at baseline in adult mice

muscle
abnormal trabecula carnea morphology ( J:277399 )
• mice exhibit deep trabeculations in the left ventricular wall at P3
• mice show a significant difference in trabecular complexity compared to controls

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
left ventricular noncompaction DOID:0060480 OMIM:604169
 J:277399




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory